Xie Dan-Feng, Zhu Lin, Wang Xiao-Meng, Li Yun, Zhou Ping
Department of Pediatric Nephrology, Allergy, and Rheumatology, Sichuan Provincial Women's and Children's Hospital, The Affiliated Women's and Children's Hospital of Chengdu Medical College, Chengdu, Sichuan, China.
Sichuan Clinical Research Center for Pediatric Nephrology, Chengdu, Sichuan, China.
Front Pediatr. 2025 May 9;13:1502727. doi: 10.3389/fped.2025.1502727. eCollection 2025.
There is a lack of awareness of the diagnosis and treatment of -related disorder (-RD), which is an autosomal dominant disease with heterogeneous clinical manifestations. We summarized the clinical phenotype and reported a variant in in a child with focal segmental glomerulosclerosis (FSGS) and reviewed the relevant literature to better understand -RD. Unlike previous cases, this patient exhibited IgA deposition in the mesangial region, suggesting need for further investigation into prognostic and therapeutic significance of this finding. To reduce the risk of -RD misdiagnosis, we recommend assessing mean platelet diameter and granulocyte inclusions in patients with unexplained proteinuria and refractory thrombocytopenia.
人们对[疾病名称]相关疾病（[疾病名称]-RD）的诊断和治疗缺乏认识，这是一种常染色体显性疾病，临床表现具有异质性。我们总结了临床表型，并报告了一名患有局灶节段性肾小球硬化（FSGS）儿童的[基因名称]中的一个变异体，并回顾了相关文献以更好地了解[疾病名称]-RD。与之前的病例不同，该患者在系膜区出现IgA沉积，提示需要进一步研究这一发现的预后和治疗意义。为降低[疾病名称]-RD误诊风险，我们建议对不明原因蛋白尿和难治性血小板减少症患者评估平均血小板直径和粒细胞包涵体。
